Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02532:R3hdm1'

297372

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02532

Quality Score

Status

Chromosome

Chromosomal Location

128103301-128237736 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 128197099 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036288] [ENSMUST00000190056]

Predicted Effect

probably null
Transcript: ENSMUST00000036288

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211

Domain	Start	End	E-Value	Type
coiled coil region	9	31	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
low complexity region	86	99	N/A	INTRINSIC
R3H	151	228	3.18e-22	SMART
Pfam:SUZ	249	302	8.8e-15	PFAM
low complexity region	391	424	N/A	INTRINSIC
low complexity region	511	534	N/A	INTRINSIC
low complexity region	624	642	N/A	INTRINSIC
low complexity region	909	927	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189982

Predicted Effect

probably null
Transcript: ENSMUST00000190056

SMART Domains

Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211

Domain	Start	End	E-Value	Type
low complexity region	82	115	N/A	INTRINSIC
low complexity region	202	225	N/A	INTRINSIC
low complexity region	281	299	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	C	6: 96,164,790	S424R	probably damaging	Het
2200002D01Rik	T	C	7: 29,248,220	K15E	possibly damaging	Het
Abca2	A	G	2: 25,435,136	T381A	probably benign	Het
Adcy1	T	A	11: 7,144,737	N554K	probably benign	Het
Adcy5	A	G	16: 35,272,083	I605V	possibly damaging	Het
Arhgap11a	G	T	2: 113,833,676	S754*	probably null	Het
Arhgef28	T	A	13: 98,029,883	D319V	probably damaging	Het
Brca2	A	G	5: 150,550,862	D2410G	probably damaging	Het
Carmil2	T	A	8: 105,692,431		probably null	Het
Catip	A	G	1: 74,364,616	N189S	probably damaging	Het
Cd177	T	C	7: 24,745,249	K636E	probably benign	Het
Cep290	A	G	10: 100,545,065	T145A	probably benign	Het
Cthrc1	T	C	15: 39,077,165		probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fas	C	A	19: 34,316,599	T118N	probably damaging	Het
Fgd3	G	A	13: 49,285,761	A253V	probably damaging	Het
Fig4	A	G	10: 41,285,281		probably benign	Het
Fubp3	T	C	2: 31,600,559		probably benign	Het
Gria2	T	A	3: 80,706,999	E578V	probably damaging	Het
Gtpbp1	T	A	15: 79,720,077	V662E	probably benign	Het
Hbb-bt	T	C	7: 103,813,874		probably benign	Het
Ighv6-5	T	A	12: 114,416,804	D50V	probably benign	Het
Inpp5k	T	C	11: 75,633,184		probably benign	Het
Kalrn	T	C	16: 34,360,846	N141D	probably damaging	Het
Kbtbd8	A	G	6: 95,126,536	T389A	probably benign	Het
Klhl6	C	A	16: 19,957,082	R242L	possibly damaging	Het
Kmt2b	T	C	7: 30,586,889		probably benign	Het
Krt13	A	T	11: 100,119,369	L262Q	probably damaging	Het
Lingo2	T	C	4: 35,709,171	K270E	possibly damaging	Het
Mroh7	A	G	4: 106,720,591	S297P	probably benign	Het
Ndufs1	G	A	1: 63,170,139	R22C	probably damaging	Het
Nlrp5	T	A	7: 23,409,973	S115T	possibly damaging	Het
Pfpl	A	T	19: 12,428,845	R153S	probably damaging	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Psme1	T	A	14: 55,581,138	Y223*	probably null	Het
Rnf103	A	G	6: 71,509,825	D480G	probably benign	Het
Rnf103	T	G	6: 71,509,652	S422R	probably damaging	Het
Rps6ka2	T	C	17: 7,255,966	V213A	probably damaging	Het
Sort1	G	T	3: 108,325,720	K203N	probably benign	Het
Sugp1	A	T	8: 70,059,819	K239N	possibly damaging	Het
Sult2a8	C	T	7: 14,416,258	R176K	probably benign	Het
Usp34	T	A	11: 23,370,291	N888K	probably damaging	Het
Vmn1r4	A	C	6: 56,957,150	H213P	possibly damaging	Het
Wdr45b	G	T	11: 121,328,813	T303K	probably benign	Het

Other mutations in R3hdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:R3hdm1	APN	1	128236439	missense	probably damaging	1.00
IGL00799:R3hdm1	APN	1	128174963	missense	probably damaging	1.00
IGL00835:R3hdm1	APN	1	128235632	splice site	probably benign
IGL00885:R3hdm1	APN	1	128236438	missense	probably damaging	0.99
IGL00990:R3hdm1	APN	1	128162196	intron	probably benign
IGL01137:R3hdm1	APN	1	128181875	missense	probably damaging	1.00
IGL01323:R3hdm1	APN	1	128216543	missense	probably benign
IGL01461:R3hdm1	APN	1	128178906	missense	probably damaging	1.00
IGL01565:R3hdm1	APN	1	128186816	missense	probably damaging	1.00
IGL01813:R3hdm1	APN	1	128175233	critical splice donor site	probably null
IGL01837:R3hdm1	APN	1	128186760	nonsense	probably null
IGL01934:R3hdm1	APN	1	128236535	missense	probably benign	0.12
IGL02074:R3hdm1	APN	1	128169038	missense	possibly damaging	0.48
IGL02606:R3hdm1	APN	1	128190719	missense	probably benign	0.00
IGL02851:R3hdm1	APN	1	128174940	splice site	probably benign
driven	UTSW	1	128193565	missense	probably benign	0.00
R0023:R3hdm1	UTSW	1	128211192	splice site	probably benign
R0280:R3hdm1	UTSW	1	128162775	missense	probably benign	0.00
R0482:R3hdm1	UTSW	1	128184517	missense	probably benign	0.12
R0521:R3hdm1	UTSW	1	128193703	missense	probably benign	0.07
R0578:R3hdm1	UTSW	1	128231437	nonsense	probably null
R0698:R3hdm1	UTSW	1	128181739	missense	probably damaging	1.00
R0701:R3hdm1	UTSW	1	128181739	missense	probably damaging	1.00
R0961:R3hdm1	UTSW	1	128193596	missense	probably benign	0.13
R1026:R3hdm1	UTSW	1	128197005	missense	probably damaging	1.00
R1141:R3hdm1	UTSW	1	128231405	missense	probably benign	0.01
R1319:R3hdm1	UTSW	1	128231405	missense	probably benign	0.01
R1320:R3hdm1	UTSW	1	128231405	missense	probably benign	0.01
R1511:R3hdm1	UTSW	1	128197005	missense	probably damaging	1.00
R1705:R3hdm1	UTSW	1	128235084	missense	probably damaging	1.00
R1991:R3hdm1	UTSW	1	128169016	missense	probably damaging	0.99
R2140:R3hdm1	UTSW	1	128190693	missense	probably damaging	0.99
R2437:R3hdm1	UTSW	1	128186836	missense	probably damaging	0.98
R2447:R3hdm1	UTSW	1	128186929	intron	probably benign
R4564:R3hdm1	UTSW	1	128221659	missense	probably benign	0.16
R4640:R3hdm1	UTSW	1	128175238	splice site	probably benign
R4649:R3hdm1	UTSW	1	128184444	missense	probably damaging	1.00
R4650:R3hdm1	UTSW	1	128184444	missense	probably damaging	1.00
R4652:R3hdm1	UTSW	1	128184444	missense	probably damaging	1.00
R4653:R3hdm1	UTSW	1	128184444	missense	probably damaging	1.00
R4696:R3hdm1	UTSW	1	128236766	utr 3 prime	probably benign
R5393:R3hdm1	UTSW	1	128231347	missense	probably benign
R5554:R3hdm1	UTSW	1	128236672	missense	probably benign	0.27
R5979:R3hdm1	UTSW	1	128211223	missense	probably benign	0.04
R6123:R3hdm1	UTSW	1	128169036	missense	probably damaging	0.99
R6185:R3hdm1	UTSW	1	128151861	missense	possibly damaging	0.93
R6618:R3hdm1	UTSW	1	128193565	missense	probably benign	0.00
R6636:R3hdm1	UTSW	1	128162811	frame shift	probably null
R6639:R3hdm1	UTSW	1	128162811	frame shift	probably null
R6756:R3hdm1	UTSW	1	128162811	frame shift	probably null
R7168:R3hdm1	UTSW	1	128216495	missense	probably benign	0.05
R7210:R3hdm1	UTSW	1	128211208	missense	possibly damaging	0.95
R7367:R3hdm1	UTSW	1	128153392	missense	possibly damaging	0.64
R7536:R3hdm1	UTSW	1	128182211	splice site	probably null
X0017:R3hdm1	UTSW	1	128167921	missense	possibly damaging	0.92
X0020:R3hdm1	UTSW	1	128169033	missense	probably damaging	1.00

Posted On

2015-04-16